CONGENITAL MUSCULAR DYSTROPHY AND CEREBRAL DYSGENESIS IN A DUTCH FAMILY

Abstract

A Dutch sibship is described consisting of a girl and a boy affected by the same disease. Both suffered from hydrocephalus and severe generalized weakness with death at 2 days and 4 months respectively.
Full autopsy was done on the boy and this revealed a lissencephalic, partly polymicrogyric, neocortex, a bridge of grey matter linking the cerebral hemispheres before and over the lateral ventricles, neocortical dysplasia with subcortical neuronal heterotopic masses, generalized white matter gliosis, also involving the long fibre tracts and generalized vascular proliferation. The cerebellum showed generalized polymicrogyria. Also true hydrocephalus was found presumably related to a malformed aqueduct.
Muscle biopsy revealed severe changes, consistent with congenital muscular dystrophy. Representative sections from the girls autopsy revealed an identical pattern of abnormalities. The described pattern fits descriptions of Fukuyama's cerebromuscular dystrophy.

Key words

Congenital muscular dystrophy - cerebral dysgenesis - lissencephaly - polymicrogyria - Fukuyama syndrome